Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation

PURPOSE: Variants in MYBPC3 causing loss of function are the most common cause of hypertrophic cardiomyopathy (HCM). However, a substantial number of patients carry missense variants of uncertain significance (VUS) in MYBPC3. We hypothesize that a structural-based algorithm, STRUM, which estimates t...

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Publié dans:Genet Med
Auteurs principaux: Thompson, Andrea D., Helms, Adam S., Kannan, Anamika, Yob, Jaime, Lakdawala, Neal K., Wittekind, Samuel G., Pereira, Alexandre C., Jacoby, Daniel L., Colan, Steven D., Ashley, Euan A., Saberi, Sara, Ware, James S., Ingles, Jodie, Semsarian, Christopher, Michels, Michelle, Mazzarotto, Francesco, Olivotto, Iacopo, Ho, Carolyn Y., Day, Sharlene M.
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group US 2021
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC8257482/
https://ncbi.nlm.nih.gov/pubmed/33782553
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-021-01134-9
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